Incidental Mutation 'R0278:Ddx6'
ID 24475
Institutional Source Beutler Lab
Gene Symbol Ddx6
Ensembl Gene ENSMUSG00000032097
Gene Name DEAD-box helicase 6
Synonyms 1110001P04Rik, HLR2, DEAD (Asp-Glu-Ala-Asp) box polypeptide 6, rck, C430015D01Rik, mRCK/P54, p54, E230023J21Rik
MMRRC Submission 038500-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0278 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 44516189-44552028 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 44542722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 385 (C385G)
Ref Sequence ENSEMBL: ENSMUSP00000149620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170489] [ENSMUST00000217034]
AlphaFold P54823
Predicted Effect probably damaging
Transcript: ENSMUST00000170489
AA Change: C385G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128421
Gene: ENSMUSG00000032097
AA Change: C385G

DomainStartEndE-ValueType
low complexity region 30 41 N/A INTRINSIC
Blast:DEXDc 42 88 7e-18 BLAST
DEXDc 115 312 3.67e-52 SMART
HELICc 348 429 1.59e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213697
Predicted Effect probably damaging
Transcript: ENSMUST00000217034
AA Change: C385G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217540
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.4%
  • 20x: 90.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAD box protein family. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is required for microRNA-induced gene silencing. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,328,215 (GRCm39) S3429R probably damaging Het
Abca3 A G 17: 24,600,894 (GRCm39) D436G probably benign Het
Acacb C A 5: 114,371,320 (GRCm39) Y1816* probably null Het
Acer3 T C 7: 97,910,804 (GRCm39) Y86C probably damaging Het
Adgre1 A G 17: 57,754,872 (GRCm39) I657V probably benign Het
Akap1 A G 11: 88,736,020 (GRCm39) V214A probably benign Het
Ankrd42 T C 7: 92,280,865 (GRCm39) R22G possibly damaging Het
Apc2 C T 10: 80,148,647 (GRCm39) P1234S possibly damaging Het
Atp13a4 A G 16: 29,273,652 (GRCm39) I441T probably damaging Het
Cenpu G A 8: 47,031,344 (GRCm39) A242T probably damaging Het
Col6a6 A T 9: 105,644,487 (GRCm39) V1267E possibly damaging Het
Crhr2 T C 6: 55,094,516 (GRCm39) T58A probably benign Het
Dnah7a A T 1: 53,543,305 (GRCm39) N2288K probably benign Het
Egfl8 A T 17: 34,833,342 (GRCm39) probably null Het
Elmo2 A T 2: 165,139,287 (GRCm39) I420N probably damaging Het
Elovl4 A G 9: 83,665,248 (GRCm39) F113L probably benign Het
Fancd2 T A 6: 113,525,409 (GRCm39) probably null Het
Fbxl13 A G 5: 21,728,908 (GRCm39) V456A probably benign Het
Fgfr2 A T 7: 129,863,592 (GRCm39) probably null Het
Fkbpl A T 17: 34,864,384 (GRCm39) R51* probably null Het
Fn3krp G A 11: 121,312,406 (GRCm39) V40M probably damaging Het
Fnip1 A G 11: 54,380,169 (GRCm39) probably null Het
Gm15446 A T 5: 110,091,281 (GRCm39) Q511L probably benign Het
Gm7334 A G 17: 51,006,289 (GRCm39) K192E probably damaging Het
H2-Q10 A T 17: 35,784,204 (GRCm39) T282S possibly damaging Het
Hspa9 A G 18: 35,073,963 (GRCm39) V482A possibly damaging Het
Ica1l A T 1: 60,053,155 (GRCm39) S128T probably benign Het
Il7r A T 15: 9,516,423 (GRCm39) I126K probably damaging Het
Kcnj8 T C 6: 142,516,074 (GRCm39) E11G probably benign Het
Klkb1 A C 8: 45,725,446 (GRCm39) F498V probably benign Het
Lama1 A G 17: 68,117,178 (GRCm39) E2491G probably null Het
Lhfpl2 T C 13: 94,310,943 (GRCm39) V71A probably benign Het
Lin9 T C 1: 180,493,488 (GRCm39) I198T probably damaging Het
Lrrc7 T A 3: 157,885,432 (GRCm39) M431L possibly damaging Het
Nmt2 A G 2: 3,326,424 (GRCm39) T519A probably benign Het
Or10w1 C A 19: 13,632,128 (GRCm39) L112I probably damaging Het
Or10w1 T A 19: 13,632,129 (GRCm39) L112H probably damaging Het
Or1d2 T C 11: 74,256,028 (GRCm39) F178L probably damaging Het
Or4a74 G T 2: 89,440,108 (GRCm39) L113M probably damaging Het
Or4a74 A T 2: 89,440,107 (GRCm39) L113Q probably damaging Het
Or5al7 A T 2: 85,992,923 (GRCm39) Y123* probably null Het
Or7h8 G T 9: 20,124,182 (GRCm39) C179F probably damaging Het
Parp4 A G 14: 56,844,980 (GRCm39) R624G probably damaging Het
Pex16 C T 2: 92,211,401 (GRCm39) P325S probably damaging Het
Pik3ca T C 3: 32,493,902 (GRCm39) M288T possibly damaging Het
Pla2g5 C T 4: 138,527,967 (GRCm39) D100N probably benign Het
Prss43 T A 9: 110,656,430 (GRCm39) M39K probably benign Het
Psd4 T C 2: 24,284,450 (GRCm39) S105P probably damaging Het
Ptprz1 T A 6: 23,000,816 (GRCm39) S969T probably benign Het
Rad23b T A 4: 55,383,575 (GRCm39) probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rpl10l A G 12: 66,331,130 (GRCm39) M1T probably null Het
Sec16a A G 2: 26,318,328 (GRCm39) S1588P probably damaging Het
Sh3rf1 A T 8: 61,827,052 (GRCm39) H602L probably damaging Het
Sparcl1 A T 5: 104,236,263 (GRCm39) S497T probably benign Het
Spata13 A G 14: 60,929,537 (GRCm39) Y365C probably benign Het
Trim5 T C 7: 103,928,882 (GRCm39) N20D probably benign Het
Vmn1r201 G T 13: 22,659,194 (GRCm39) W136L probably damaging Het
Vmn2r112 A G 17: 22,821,987 (GRCm39) I222V probably benign Het
Vmn2r56 A T 7: 12,449,644 (GRCm39) V198D probably damaging Het
Wapl A G 14: 34,414,569 (GRCm39) D477G possibly damaging Het
Zfp202 C A 9: 40,119,778 (GRCm39) H194N probably benign Het
Zfp212 C T 6: 47,903,453 (GRCm39) R13W probably damaging Het
Other mutations in Ddx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02561:Ddx6 APN 9 44,545,465 (GRCm39) missense probably damaging 0.96
IGL02880:Ddx6 APN 9 44,524,194 (GRCm39) splice site probably benign
R1330:Ddx6 UTSW 9 44,539,070 (GRCm39) splice site probably benign
R2001:Ddx6 UTSW 9 44,518,831 (GRCm39) missense probably benign
R2002:Ddx6 UTSW 9 44,518,831 (GRCm39) missense probably benign
R2124:Ddx6 UTSW 9 44,535,816 (GRCm39) nonsense probably null
R2177:Ddx6 UTSW 9 44,539,028 (GRCm39) missense probably damaging 1.00
R2347:Ddx6 UTSW 9 44,518,888 (GRCm39) missense probably benign 0.00
R2863:Ddx6 UTSW 9 44,525,553 (GRCm39) missense probably damaging 1.00
R2865:Ddx6 UTSW 9 44,525,553 (GRCm39) missense probably damaging 1.00
R4584:Ddx6 UTSW 9 44,535,784 (GRCm39) missense probably damaging 1.00
R4915:Ddx6 UTSW 9 44,524,170 (GRCm39) missense probably damaging 1.00
R5476:Ddx6 UTSW 9 44,518,753 (GRCm39) missense possibly damaging 0.67
R6213:Ddx6 UTSW 9 44,539,990 (GRCm39) missense probably damaging 0.99
R6264:Ddx6 UTSW 9 44,540,049 (GRCm39) missense probably damaging 1.00
R6368:Ddx6 UTSW 9 44,547,073 (GRCm39) missense probably damaging 1.00
R6525:Ddx6 UTSW 9 44,534,926 (GRCm39) missense probably damaging 1.00
R6994:Ddx6 UTSW 9 44,540,020 (GRCm39) missense probably damaging 0.98
R7252:Ddx6 UTSW 9 44,535,050 (GRCm39) splice site probably null
R7463:Ddx6 UTSW 9 44,540,026 (GRCm39) missense probably damaging 1.00
R7706:Ddx6 UTSW 9 44,538,939 (GRCm39) missense probably damaging 1.00
R7752:Ddx6 UTSW 9 44,538,960 (GRCm39) missense probably damaging 1.00
R7784:Ddx6 UTSW 9 44,541,439 (GRCm39) critical splice donor site probably null
RF004:Ddx6 UTSW 9 44,535,789 (GRCm39) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- GCAGCATGGCTTATTATGCCTGTCC -3'
(R):5'- GCACTGAATAGCACCTGCTCTCAAC -3'

Sequencing Primer
(F):5'- ggcttattatgcctgtcctttttg -3'
(R):5'- CAGGCACCCCTGTCTTCAG -3'
Posted On 2013-04-16